www.nature.com/hgv ARTICLE OPEN Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform Yanqiu Liu1,8, Liangwei Mao2,3,8, Hui Huang4,8, Wei Li4,8, J
A team from China led by Xiaoming Wei from BGI Genomics in Shenzhen and Yang Wan from the Fuyang People's Hospital has designed a DNA chip that captures the coding regions of 4,013 disease-causing genes plus another 148 common chromosomal abnormalities. The targeted next-generation sequencing ...